My rare skin condition

The rare skin condition I suffer with is called CYLD cutaneous syndrome, previously known as Brooke Spiegler Syndrome. This skin condition causes the growth of multiple skin tumours and affects only 1 in 100,000 people. 

There is currently no cure for the condition, which can be inherited, although I am the only person known to be affected in my family. Treatment is removal of the tumours although more will grow so repeated treatment is required. This is either through biopsy or laser treatment, which is relatively painless to go through, however the healing process can be uncomfortable for a week or so. Some patients suffer to a much more severe extent than I do, so my treatment is relatively straight forward although I have developed uncomfortable keloid scarring through multiple laser treatments.

Getting diagnosed with CYLD cutaneous syndrome

I first began to suffer from growths from the age of 11, however due to the rarity of the condition I was not given a correct diagnosis until I was in my early thirties. 

When I was first diagnosed, I felt really lonely and isolated due to the lack of information or knowledge of the syndrome and a feeling that nobody understood how I felt. The not knowing affected me the most. How severely would I be affected? Would I have unknowingly passed this to my own children?

Changing Faces

The charity Changing Faces has held a movement called 'I am not your villain’ which focuses on people with facial differences being portrayed as the bad characters in movies. This struck a chord with me and memories began to surface from my earlier years, remembering the dread I used to feel at school if the topic was Roald Dahl. As much as I enjoyed his stories, I would dread the images of the Twits or the Witches appearing. They always had skin growths such as warts on their faces and it made me uncomfortable and embarrassed about my own skin. 

Seeing my skin condition in a more positive light

However, now I'm able to see things in a much more positive light and look at the opportunities having a rare condition can bring.

When I was first diagnosed, the dermatology department at my local hospital treated me with such care and this was so important in those early days. It was during these appointments that the multi team approach was first discussed with me, allowing a number of professionals to be involved in care and decision making whilst also allowing me to contribute to research, allowing skin samples and clinical photography for medical students to use in their studies. I felt like a minor celebrity with dermatology students queuing up to see me!

To coordinate my treatment, I've been lucky to have been placed under the care of a specialist who, although is based over 150 miles away, is always at the end of an email or phone call, alongside face-to-face visits when necessary for testing or biopsies. 

Having the support of an expert in this condition helps massively and knowing he is continually looking at research to help us and those in the future really gives a focus and helps to accept everything.

Finding support from others with CYLD cutaneous syndrome

Following my diagnosis, I was very lucky to find a support group specifically for patients with CYLD cutaneous syndrome. This is an online Facebook group which is a private group and safe place to share any thoughts or just know people understand how you are feeling and what you feel like. If people don't suffer from a condition such as this I think it's difficult for them to understand how we feel or the impact it can have on us. 

Whilst it took me a number of years to accept having this syndrome, I no longer see only the negatives of it. It is part of who I am and as I say "every scar tells a tale". I was provided with camouflage make up a few years ago and don't use it. I've got lumps, bumps and scars but they don't define who I am so I don't feel I need to try and hide them. 

I have a supportive husband, family, friends and employer which helps if I'm having a rare down day or need time to recover after laser treatment. This all helps me to accept that having CYLD cutaneous syndrome doesn't control my life. It's a tiny part of me and it has shaped who I am but it doesn't define me. 

Hayley Mills

Donate   BSF funded CYLD cutaneous syndrome research

By donating to skin disease research, you are helping us to find treatments and cures for common conditions like rosacea, acne and psoriasis through to potential killers like melanoma skin cancer. Thank you.